EPN3 — 149 ClinVar variants

All ClinVar germline EPN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

1 Benign · 8 Likely benign · 140 Uncertain significance

Full EPN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 78

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 62

The independent predictors disagree with each other — read with care.

All EPN3 variants

Benign 1

p.Ala520fs Single submitter

Likely benign 8

p.Ala588Val Single submitter
p.Ala606Thr Single submitter
p.Arg278Gln Single submitter
p.Asp414Asn Single submitter
p.Gly477Asp Single submitter
p.His73= Single submitter
p.Ser18= Single submitter
p.Val354Ile Single submitter ⚠

Uncertain significance 140

c.*242_*244del Single submitter recessive dystrophic epidermolysis bullosa
p.Ala244Val Single submitter ⚠
p.Ala267Thr Single submitter ⚠
p.Ala270Gly Single submitter ⚠
p.Ala334Ser Single submitter ⚠
p.Ala334Thr Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Ala492Val Single submitter ⚠
p.Ala541Glu Single submitter ⚠
p.Ala606Gly Single submitter ⚠
p.Ala606Pro Single submitter ⚠
p.Ala617Val Single submitter ⚠
p.Arg114Cys Single submitter ⚠
p.Arg139Gln Single submitter ⚠
p.Arg139Trp Single submitter ⚠
p.Arg141Trp Single submitter ⚠
p.Arg170Cys Single submitter ⚠
p.Arg180Gly Single submitter ⚠
p.Arg180Trp Single submitter ⚠
p.Arg203Trp Single submitter ⚠
p.Arg235Lys Single submitter ⚠
p.Arg246Cys Single submitter ⚠
p.Arg25Cys Single submitter ⚠
p.Arg25His Single submitter ⚠
p.Arg278Trp Single submitter ⚠
p.Arg375Ser Single submitter ⚠
p.Arg62Gln Single submitter ⚠
p.Arg72Gln Single submitter ⚠
p.Arg7Gln Single submitter ⚠
p.Arg7Trp Single submitter ⚠
p.Arg8His Single submitter ⚠
p.Arg91Gln Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn65Ser Single submitter ⚠
p.Asn70Lys Single submitter ⚠
p.Asp113Glu Single submitter ⚠
p.Asp115Asn Single submitter ⚠
p.Asp136Asn Single submitter ⚠
p.Asp136Glu Single submitter ⚠
p.Asp344Glu Single submitter ⚠
p.Asp362Ala Single submitter ⚠
p.Asp82His Single submitter ⚠
p.Cys318Tyr Single submitter ⚠
p.Gln260His Single submitter ⚠
p.Gln551Glu Single submitter ⚠
p.Gln601Pro Single submitter ⚠
p.Gln625His Single submitter ⚠
p.Glu125Lys Single submitter ⚠
p.Glu138Asp Single submitter ⚠
p.Glu152Lys Single submitter ⚠
p.Glu200Lys Single submitter ⚠
p.Glu237Ala Single submitter ⚠
p.Glu26Gly Single submitter ⚠
p.Glu26Lys Single submitter ⚠
p.Glu290Asp Single submitter ⚠
p.Glu543Lys Single submitter ⚠
p.Glu90Lys Single submitter ⚠
p.Gly120Asp Single submitter ⚠
p.Gly173Ser Single submitter ⚠
p.Gly271Ala Single submitter ⚠
p.Gly340Arg Single submitter ⚠
p.Gly34Cys Single submitter ⚠
p.Gly437Trp Single submitter ⚠
p.Gly480Ala Single submitter ⚠
p.Gly480Val Single submitter ⚠
p.Gly560Cys Single submitter ⚠
p.Gly603Glu Single submitter ⚠
p.Gly68Arg Single submitter ⚠
p.His15Arg Single submitter ⚠
p.His276Gln Single submitter ⚠
p.Leu156Val Single submitter ⚠
p.Leu301Arg Single submitter ⚠
p.Leu438Met Single submitter ⚠
p.Leu453Met Single submitter ⚠
p.Leu510Pro Single submitter ⚠
p.Leu590Phe Single submitter ⚠
p.Leu590Trp Single submitter ⚠
p.Leu632Ile Single submitter ⚠
p.Leu85His Single submitter ⚠
p.Lys11Asn Single submitter ⚠
p.Lys488Ile Single submitter ⚠
p.Lys69Thr Single submitter ⚠
p.Met131Thr Single submitter ⚠
p.Met220Ile Single submitter ⚠
p.Met366Lys Single submitter ⚠
p.Met573Thr Single submitter ⚠
p.Met57Ile Single submitter ⚠
p.Phe307Ser Single submitter ⚠
p.Phe422Leu Single submitter ⚠
p.Pro183Leu Single submitter ⚠
p.Pro183Ser Single submitter ⚠
p.Pro193Leu Single submitter ⚠
p.Pro231Leu Single submitter ⚠
p.Pro231Thr Single submitter ⚠
p.Pro313Ala Single submitter ⚠
p.Pro32Ser Single submitter ⚠
p.Pro32Thr Single submitter ⚠
p.Pro330Gln Single submitter ⚠
p.Pro330Leu Single submitter ⚠
p.Pro345Ala Single submitter ⚠
p.Pro345Arg Single submitter ⚠
p.Pro345Thr Single submitter ⚠
p.Pro380Ser Single submitter ⚠
p.Pro416Leu Single submitter ⚠
p.Pro525Ala Single submitter ⚠
p.Pro624Gln Single submitter ⚠
p.Ser184Thr Single submitter ⚠
p.Ser18Pro Single submitter ⚠
p.Ser191Leu Single submitter ⚠
p.Ser197Ala Single submitter ⚠
p.Ser248Asn Single submitter ⚠
p.Ser356Pro Single submitter ⚠
p.Ser409Cys Single submitter ⚠
p.Ser413Ala Single submitter ⚠
p.Ser487Arg Single submitter ⚠
p.Ser531Asn Single submitter ⚠
p.Ser597Arg Single submitter ⚠
p.Thr102Pro Single submitter ⚠
p.Thr206Met Single submitter ⚠
p.Thr2Lys Single submitter ⚠
p.Thr316Ile Single submitter ⚠
p.Thr332Pro Single submitter ⚠
p.Thr385Ile Single submitter ⚠
p.Thr421Ser Single submitter ⚠
p.Thr468Ala Single submitter ⚠
p.Thr548Arg Single submitter ⚠
p.Thr626Asn Single submitter ⚠
p.Thr87Met Single submitter ⚠
p.Trp323Arg Single submitter ⚠
p.Trp373Cys Single submitter ⚠
p.Tyr101His Single submitter ⚠
p.Tyr17Cys Single submitter ⚠
p.Tyr83His Single submitter ⚠
p.Val14Met Single submitter ⚠
p.Val24Ala Single submitter ⚠
p.Val274Ile Single submitter ⚠
p.Val308Ile Single submitter ⚠
p.Val586Leu Single submitter ⚠
p.Val598Ile Single submitter ⚠
p.Val74Met Single submitter ⚠